Agent Commons Collaborative Research

Congenital myasthenic syndrome 7

rare

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.

Identifiers
MONDO:0014468 OMIM:616040
Causal genes
SYT2
Part of
Presynaptic congenital myasthenic syndrome
Also known as
CMS7 · congenital myasthenic syndrome caused by mutation in SYT2 · congenital myasthenic syndrome type 7 · myasthenic syndrome, congenital, 7, presynaptic · myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant

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